IL1R1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1maintenance of protein localization in endoplasmic reticulum (GO:0035437)7.02055875
2endocrine pancreas development (GO:0031018)6.92325692
3COPII vesicle coating (GO:0048208)6.80414123
4signal peptide processing (GO:0006465)6.58772674
5retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)6.53312919
6protein maturation by protein folding (GO:0022417)6.19667325
7protein retention in ER lumen (GO:0006621)5.97164807
8peptide hormone processing (GO:0016486)5.91157821
9sequestering of metal ion (GO:0051238)5.60873442
10type B pancreatic cell development (GO:0003323)5.60777900
11glandular epithelial cell differentiation (GO:0002067)5.55239725
12activation of signaling protein activity involved in unfolded protein response (GO:0006987)5.43925978
13glandular epithelial cell development (GO:0002068)5.23320526
14regulation of type B pancreatic cell apoptotic process (GO:2000674)5.19724336
15regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022355.19181144
16positive regulation of nuclease activity (GO:0032075)5.14601324
17vesicle coating (GO:0006901)4.97798272
18ER overload response (GO:0006983)4.89021934
19insulin secretion (GO:0030073)4.78061274
20positive regulation of insulin secretion (GO:0032024)4.73271768
21regulation of nuclease activity (GO:0032069)4.67999614
22exocrine pancreas development (GO:0031017)4.67354062
23endoplasmic reticulum unfolded protein response (GO:0030968)4.63869098
24cellular response to unfolded protein (GO:0034620)4.58668311
25cellular response to topologically incorrect protein (GO:0035967)4.39429499
26ER-nucleus signaling pathway (GO:0006984)4.36375159
27ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)4.15747744
28regulation of insulin secretion (GO:0050796)4.06514141
29columnar/cuboidal epithelial cell development (GO:0002066)4.02923552
30regulation of glucokinase activity (GO:0033131)4.00002222
31regulation of hexokinase activity (GO:1903299)4.00002222
32positive regulation of peptide hormone secretion (GO:0090277)3.95174102
33intra-Golgi vesicle-mediated transport (GO:0006891)3.81877263
34positive regulation of peptide secretion (GO:0002793)3.78746331
35regulation of peptide hormone secretion (GO:0090276)3.74718481
36ER to Golgi vesicle-mediated transport (GO:0006888)3.72579722
37response to endoplasmic reticulum stress (GO:0034976)3.70342142
38regulation of peptide secretion (GO:0002791)3.66779996
39toxin metabolic process (GO:0009404)3.66642566
40cellular zinc ion homeostasis (GO:0006882)3.64524705
41protein N-linked glycosylation via asparagine (GO:0018279)3.64473123
42cellular response to vitamin D (GO:0071305)3.64427961
43peptidyl-asparagine modification (GO:0018196)3.62089286
44negative regulation of bone resorption (GO:0045779)3.55429606
45UDP-N-acetylglucosamine metabolic process (GO:0006047)3.55097957
46response to unfolded protein (GO:0006986)3.54876854
47skin morphogenesis (GO:0043589)3.50181925
48detection of calcium ion (GO:0005513)3.48537196
49negative regulation of complement activation (GO:0045916)3.48060950
50protein heterotrimerization (GO:0070208)3.46037775
51peptide hormone secretion (GO:0030072)3.44895212
52response to topologically incorrect protein (GO:0035966)3.43060149
53peptide secretion (GO:0002790)3.41156394
54negative regulation of protein activation cascade (GO:2000258)3.39686245
55keratan sulfate catabolic process (GO:0042340)3.36977779
56negative regulation of glycoprotein biosynthetic process (GO:0010561)3.33069413
57protein N-linked glycosylation (GO:0006487)3.31880755
58L-alpha-amino acid transmembrane transport (GO:1902475)3.30398751
59positive regulation of hormone biosynthetic process (GO:0046886)3.26409247
60collagen fibril organization (GO:0030199)3.25349437
61regulation of hormone secretion (GO:0046883)3.25005922
62astrocyte differentiation (GO:0048708)3.22649047
63regulation of complement activation (GO:0030449)3.20871121
64adhesion of symbiont to host cell (GO:0044650)3.19056791
65virion attachment to host cell (GO:0019062)3.19056791
66extracellular matrix assembly (GO:0085029)3.16139660
67positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.15702993
68positive regulation of hormone secretion (GO:0046887)3.15207709
694-hydroxyproline metabolic process (GO:0019471)3.15130213
70erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.14493560
71L-phenylalanine catabolic process (GO:0006559)3.14493560
72epithelial cell fate commitment (GO:0072148)3.14223206
73macroautophagy (GO:0016236)3.13696450
74Golgi organization (GO:0007030)3.13602357
75regulation of protein activation cascade (GO:2000257)3.13069551
76regulation of ER to Golgi vesicle-mediated transport (GO:0060628)3.11751645
77inner ear receptor cell development (GO:0060119)3.11576441
78positive regulation of glycolytic process (GO:0045821)3.11492423
79negative regulation of fatty acid transport (GO:2000192)3.10081125
80adhesion of symbiont to host (GO:0044406)3.09035969
81surfactant homeostasis (GO:0043129)3.07046511
82nitric oxide mediated signal transduction (GO:0007263)3.06432495
83regulation of membrane protein ectodomain proteolysis (GO:0051043)3.05633446
84negative regulation of insulin secretion (GO:0046676)3.05372100
85positive regulation of extracellular matrix organization (GO:1903055)3.04079808
86regulation of Golgi to plasma membrane protein transport (GO:0042996)3.03425397
87response to hexose (GO:0009746)3.02957788
88regulation of peptide transport (GO:0090087)3.02781903
89cell adhesion mediated by integrin (GO:0033627)3.01867346
90purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.01144523
913-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.01144523
92lactate metabolic process (GO:0006089)3.00540868
93response to glucose (GO:0009749)2.98843724
94sequestering of extracellular ligand from receptor (GO:0035581)2.98675453
95negative regulation of bone remodeling (GO:0046851)2.98550655
96negative regulation of fibrinolysis (GO:0051918)2.97870773
97glucose homeostasis (GO:0042593)2.96548716
98carbohydrate homeostasis (GO:0033500)2.96548716
99regulation of glucocorticoid secretion (GO:2000849)2.96426007
100protein localization to Golgi apparatus (GO:0034067)2.93172407
101positive regulation of heat generation (GO:0031652)2.92869452
102fibril organization (GO:0097435)2.92468600
103zinc ion homeostasis (GO:0055069)2.92063886
104regulation of fever generation (GO:0031620)2.91902996
105extracellular fibril organization (GO:0043206)2.91544441
106hormone catabolic process (GO:0042447)2.90783734
107response to monosaccharide (GO:0034284)2.89861428
108regulation of apoptotic cell clearance (GO:2000425)2.88999592
109endodermal cell differentiation (GO:0035987)2.88935496
110complement activation, classical pathway (GO:0006958)2.88871279
111intestinal absorption (GO:0050892)2.88790720
112negative regulation of norepinephrine secretion (GO:0010700)2.88402834
113cell migration involved in heart development (GO:0060973)2.87472834
114regulation of plasminogen activation (GO:0010755)2.86312392
115intestinal cholesterol absorption (GO:0030299)2.84578195
116interleukin-6-mediated signaling pathway (GO:0070102)2.84361257
117basement membrane organization (GO:0071711)2.82909454
118negative regulation of glycoprotein metabolic process (GO:1903019)2.79052462
119protein targeting to Golgi (GO:0000042)2.78163754
120peptide transport (GO:0015833)2.77298244
121negative regulation of catecholamine secretion (GO:0033604)2.76892640
122induction of positive chemotaxis (GO:0050930)2.76865364
123Golgi vesicle transport (GO:0048193)2.76120089
124erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.75909982
125L-phenylalanine metabolic process (GO:0006558)2.75909982
126negative regulation of humoral immune response (GO:0002921)2.75021442
127hormone secretion (GO:0046879)2.74297547
128vascular endothelial growth factor signaling pathway (GO:0038084)2.74131976
129negative regulation of glycogen biosynthetic process (GO:0045719)2.73518813
130complement activation, alternative pathway (GO:0006957)2.70490442
131collagen metabolic process (GO:0032963)2.69932139
132positive regulation of steroid biosynthetic process (GO:0010893)2.68584196
133gland morphogenesis (GO:0022612)2.68033068
134complement activation (GO:0006956)2.64430527
135regulation of extracellular matrix disassembly (GO:0010715)2.60972749
136cell proliferation involved in metanephros development (GO:0072203)2.60640561
137apoptotic cell clearance (GO:0043277)2.59958741
138positive regulation of endothelial cell apoptotic process (GO:2000353)2.59770709
139collagen catabolic process (GO:0030574)2.55871413
140low-density lipoprotein particle clearance (GO:0034383)2.54982543
141multicellular organismal macromolecule metabolic process (GO:0044259)2.54635627
142positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)2.54064733
143regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.52849750
144iron ion import (GO:0097286)2.52579160
145regulation of fibrinolysis (GO:0051917)2.51980577
146positive regulation of cholesterol efflux (GO:0010875)2.51903100
147glomerular basement membrane development (GO:0032836)2.50784886
148extracellular matrix disassembly (GO:0022617)2.48998181
149multicellular organismal metabolic process (GO:0044236)2.48925951
150ovulation from ovarian follicle (GO:0001542)2.46661327
151regulation of cholesterol storage (GO:0010885)2.45708511
152protein carboxylation (GO:0018214)2.44874483
153peptidyl-glutamic acid carboxylation (GO:0017187)2.44874483
154chemical homeostasis within a tissue (GO:0048875)2.42972510
155protein activation cascade (GO:0072376)2.42881112
156blood vessel maturation (GO:0001955)2.42128534
157multicellular organismal catabolic process (GO:0044243)2.41018300
158endocardial cushion development (GO:0003197)2.39885374
159positive regulation of cholesterol transport (GO:0032376)2.37627743
160positive regulation of sterol transport (GO:0032373)2.37627743
161regulation of vitamin D biosynthetic process (GO:0060556)2.35519798
162peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.34322793
163negative regulation of lipid storage (GO:0010888)2.34003498
164regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.33383965
165negative regulation of smooth muscle cell migration (GO:0014912)2.30883743
166type B pancreatic cell proliferation (GO:0044342)2.30341623
167lung vasculature development (GO:0060426)2.28974801
168wound healing, spreading of epidermal cells (GO:0035313)2.28296029
169cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.26765436
170tooth mineralization (GO:0034505)2.26289140
171regulation of interleukin-12 biosynthetic process (GO:0045075)2.25176266
172barbed-end actin filament capping (GO:0051016)2.24007540
173regulation of integrin-mediated signaling pathway (GO:2001044)2.23207363
174smooth muscle tissue development (GO:0048745)2.23116719
175response to laminar fluid shear stress (GO:0034616)2.22209141
176regulation of transforming growth factor beta1 production (GO:0032908)2.21999175
177positive regulation of acute inflammatory response (GO:0002675)2.20162689
178metanephric mesenchyme development (GO:0072075)2.20048788
179negative regulation of leukocyte chemotaxis (GO:0002689)2.19848844
180regulation of vitamin metabolic process (GO:0030656)2.19134797
181fibrinolysis (GO:0042730)2.18995953
182regulation of macrophage chemotaxis (GO:0010758)2.18534039
183regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.17091784
184negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.16665128
185retina vasculature morphogenesis in camera-type eye (GO:0061299)2.15289978
186mesenchymal-epithelial cell signaling (GO:0060638)2.15214857
187regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.14879018
188regulation of heat generation (GO:0031650)2.14447293
189positive regulation vascular endothelial growth factor production (GO:0010575)2.14082195
190detection of molecule of bacterial origin (GO:0032490)2.13746773
191hyaluronan catabolic process (GO:0030214)2.13544277
192regulation of extracellular matrix organization (GO:1903053)2.13042780
193acute-phase response (GO:0006953)2.12412100
194regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.12271391
195hypotonic response (GO:0006971)2.12162635
196regulation of endothelial cell apoptotic process (GO:2000351)2.12073346
197positive regulation of blood coagulation (GO:0030194)2.11692935
198positive regulation of hemostasis (GO:1900048)2.11692935
199COPI coating of Golgi vesicle (GO:0048205)10.9491642
200Golgi transport vesicle coating (GO:0048200)10.9491642

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse7.57193478
2GATA1_22025678_ChIP-Seq_K562_Human5.30950067
3DMRT1_21621532_ChIP-ChIP_FETAL_Ovary3.29352995
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.12811431
5ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.08475349
6RARG_19884340_ChIP-ChIP_MEFs_Mouse2.96449817
7SMAD_19615063_ChIP-ChIP_OVARY_Human2.88703632
8* LXR_22158963_ChIP-Seq_LIVER_Mouse2.84119163
9PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.69273221
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.59547390
11PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.55271763
12STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.50698689
13PPARA_22158963_ChIP-Seq_LIVER_Mouse2.45199197
14FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.28760038
15RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.28058518
16TP63_17297297_ChIP-ChIP_HaCaT_Human2.24864263
17NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.20697088
18ESR2_21235772_ChIP-Seq_MCF-7_Human2.18191438
19* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.12108296
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.06629034
21CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.04958142
22TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.04609029
23SOX2_27498859_Chip-Seq_STOMACH_Mouse1.96499632
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.91229088
25Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.88500177
26PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.82625506
27FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.78013244
28* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.77637589
29IRF8_22096565_ChIP-ChIP_GC-B_Human1.74885486
30CLOCK_20551151_ChIP-Seq_293T_Human1.70987434
31RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.68999660
32CDX2_19796622_ChIP-Seq_MESCs_Mouse1.65748301
33IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.65587280
34EGR1_23403033_ChIP-Seq_LIVER_Mouse1.64462826
35CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.59840223
36AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.59298053
37* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.56359581
38* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.56291782
39FOXA1_25552417_ChIP-Seq_VCAP_Human1.53763087
40* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.52091538
41ESR1_21235772_ChIP-Seq_MCF-7_Human1.51959670
42STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.51155644
43* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.49274857
44NR3C1_23031785_ChIP-Seq_PC12_Mouse1.47985560
45MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.42575351
46BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.40788522
47NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.39122107
48SOX2_20726797_ChIP-Seq_SW620_Human1.36832801
49* FOXA2_19822575_ChIP-Seq_HepG2_Human1.35399604
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.35174934
51IGF1R_20145208_ChIP-Seq_DFB_Human1.34548172
52BP1_19119308_ChIP-ChIP_Hs578T_Human1.34128019
53GATA2_21666600_ChIP-Seq_HMVEC_Human1.31801809
54ELF1_17652178_ChIP-ChIP_JURKAT_Human1.31603240
55STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.29776451
56VDR_24787735_ChIP-Seq_THP-1_Human1.29736880
57* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.29687535
58* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.29405483
59ESR1_20079471_ChIP-ChIP_T-47D_Human1.28829636
60SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.28377472
61IRF8_27001747_Chip-Seq_BMDM_Mouse1.28122277
62NFIB_24661679_ChIP-Seq_LUNG_Mouse1.28095103
63SOX9_24532713_ChIP-Seq_HFSC_Mouse1.27103418
64NRF2_20460467_ChIP-Seq_MEFs_Mouse1.26650104
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.26650104
66* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.26467501
67HIF1A_21447827_ChIP-Seq_MCF-7_Human1.25897112
68EGR1_19374776_ChIP-ChIP_THP-1_Human1.25811047
69POU3F2_20337985_ChIP-ChIP_501MEL_Human1.25721880
70THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25340756
71* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.24804138
72* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.24729349
73PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.24557574
74* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.24052434
75STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.21714068
76MYB_21317192_ChIP-Seq_ERMYB_Mouse1.20284405
77SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.19077227
78SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.19077227
79STAT3_23295773_ChIP-Seq_U87_Human1.16321091
80TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.14955232
81* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.11541554
82ELK3_25401928_ChIP-Seq_HUVEC_Human1.08660686
83SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.08659036
84AHR_22903824_ChIP-Seq_MCF-7_Human1.07753258
85TFEB_21752829_ChIP-Seq_HELA_Human1.07737471
86* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06426325
87* SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.06218174
88VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.04139113
89ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.03499776
90ERG_20517297_ChIP-Seq_VCAP_Human1.03471336
91PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.02948144
92ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02254786
93REST_19997604_ChIP-ChIP_NEURONS_Mouse1.01896131
94RUNX_20019798_ChIP-Seq_JUKART_Human1.00792946
95TP53_16413492_ChIP-PET_HCT116_Human1.00719350
96SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.00138106
97PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.99279458
98WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.99043688
99SMC1_22415368_ChIP-Seq_MEFs_Mouse0.97575799
100* GATA3_24758297_ChIP-Seq_MCF-7_Human0.97428690
101* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.95892928
102GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95801824
103DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.95060670
104* GATA1_19941826_ChIP-Seq_K562_Human0.94861432
105TCF4_18268006_ChIP-ChIP_LS174T_Human0.94314035
106TP53_18474530_ChIP-ChIP_U2OS_Human0.93743860
107CTNNB1_20460455_ChIP-Seq_HCT116_Human0.93495635
108BCAT_22108803_ChIP-Seq_LS180_Human0.93142092
109* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.92617058
110OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.92473240
111BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.92192235
112TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91390671
113PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91110534
114STAT6_21828071_ChIP-Seq_BEAS2B_Human0.90857356
115TP63_23658742_ChIP-Seq_EP156T_Human0.89689916
116SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.89529497
117CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.89367464
118RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.89276860
119EP300_21415370_ChIP-Seq_HL-1_Mouse0.87647797
120UBF1/2_26484160_Chip-Seq_HMECs_Human0.87372797
121SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.87214051
122GATA3_27048872_Chip-Seq_THYMUS_Human0.86519007
123MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.85677264
124KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.85495325
125EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.85338189
126* GATA4_25053715_ChIP-Seq_YYC3_Human0.85063738
127CDX2_20551321_ChIP-Seq_CACO-2_Human0.84949350
128ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.83173073
129BRD4_25478319_ChIP-Seq_HGPS_Human0.82572227
130CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82271792
131TBX20_22328084_ChIP-Seq_HEART_Mouse0.82209289
132TBX20_22080862_ChIP-Seq_HEART_Mouse0.82209289
133ARNT_22903824_ChIP-Seq_MCF-7_Human0.81547687
134GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.81179513
135KDM2B_26808549_Chip-Seq_SUP-B15_Human0.81062472
136SALL4_18804426_ChIP-ChIP_XEN_Mouse0.80762167
137PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80378794
138LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80349250
139AR_20517297_ChIP-Seq_VCAP_Human0.80188471
140IRF8_21731497_ChIP-ChIP_J774_Mouse0.79910354
141ZNF274_21170338_ChIP-Seq_K562_Hela0.79806056
142MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.79154288
143CJUN_26792858_Chip-Seq_BT549_Human0.78510098
144WT1_19549856_ChIP-ChIP_CCG9911_Human0.78265421
145SMAD4_21799915_ChIP-Seq_A2780_Human0.78011303
146* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.76688315
147FLI1_21867929_ChIP-Seq_TH2_Mouse0.76600340
148* STAT3_18555785_Chip-Seq_ESCs_Mouse0.76037551
149* NANOG_18555785_Chip-Seq_ESCs_Mouse0.75816899
150CDX2_22108803_ChIP-Seq_LS180_Human0.75646337
151* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.74455513
152FOXO3_23340844_ChIP-Seq_DLD1_Human0.74391487
153GATA3_26560356_Chip-Seq_TH2_Human0.73566571
154* NMYC_18555785_Chip-Seq_ESCs_Mouse0.72831935
155GF1B_26923725_Chip-Seq_HPCs_Mouse0.71056571
156HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.70149720
157YAP1_20516196_ChIP-Seq_MESCs_Mouse0.70147282
158TP53_22573176_ChIP-Seq_HFKS_Human0.70053153
159FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.69616817
160PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.69236527
161FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.69142435
162* TCF4_23295773_ChIP-Seq_U87_Human0.68646259

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002877_abnormal_melanocyte_morpholog6.01193469
2MP0003195_calcinosis4.16766233
3MP0002693_abnormal_pancreas_physiology4.08628679
4MP0000013_abnormal_adipose_tissue3.88853865
5MP0009780_abnormal_chondrocyte_physiolo3.82993614
6MP0001944_abnormal_pancreas_morphology3.81196269
7MP0004043_abnormal_pH_regulation3.77918328
8MP0003283_abnormal_digestive_organ3.66234420
9MP0002909_abnormal_adrenal_gland3.56322057
10MP0001958_emphysema3.46666458
11MP0000678_abnormal_parathyroid_gland3.22222752
12MP0005379_endocrine/exocrine_gland_phen3.19540352
13MP0010386_abnormal_urinary_bladder3.18430467
14MP0003183_abnormal_peptide_metabolism3.12182722
15MP0003279_aneurysm3.05975600
16MP0003705_abnormal_hypodermis_morpholog2.91047508
17MP0004272_abnormal_basement_membrane2.89539493
18MP0005220_abnormal_exocrine_pancreas2.84911396
19MP0005365_abnormal_bile_salt2.49268470
20MP0002837_dystrophic_cardiac_calcinosis2.47586804
21MP0002078_abnormal_glucose_homeostasis2.39897542
22MP0008004_abnormal_stomach_pH2.37061935
23MP0003252_abnormal_bile_duct2.35819488
24MP0009840_abnormal_foam_cell2.32939773
25MP0002139_abnormal_hepatobiliary_system2.32151879
26MP0000003_abnormal_adipose_tissue2.15940000
27MP0004264_abnormal_extraembryonic_tissu2.08688161
28MP0003191_abnormal_cellular_cholesterol2.05140062
29MP0006054_spinal_hemorrhage1.90335012
30MP0005023_abnormal_wound_healing1.90157643
31MP0003300_gastrointestinal_ulcer1.88841123
32MP0001542_abnormal_bone_strength1.88786315
33MP0003566_abnormal_cell_adhesion1.86001634
34MP0009384_cardiac_valve_regurgitation1.85949378
35MP0002896_abnormal_bone_mineralization1.81061766
36MP0001986_abnormal_taste_sensitivity1.79821974
37MP0005085_abnormal_gallbladder_physiolo1.72390832
38MP0002138_abnormal_hepatobiliary_system1.71424728
39MP0003868_abnormal_feces_composition1.71314761
40MP0005164_abnormal_response_to1.69550226
41MP0002928_abnormal_bile_duct1.67915540
42MP0006072_abnormal_retinal_apoptosis1.67195397
43MP0003303_peritoneal_inflammation1.65523941
44MP0002638_abnormal_pupillary_reflex1.64950012
45MP0005257_abnormal_intraocular_pressure1.61790901
46* MP0001533_abnormal_skeleton_physiology1.61028752
47MP0000767_abnormal_smooth_muscle1.56408443
48MP0003091_abnormal_cell_migration1.56121070
49MP0000613_abnormal_salivary_gland1.54784986
50MP0005646_abnormal_pituitary_gland1.51665743
51MP0001765_abnormal_ion_homeostasis1.44797285
52MP0010352_gastrointestinal_tract_polyps1.44757228
53* MP0002998_abnormal_bone_remodeling1.43743402
54MP0002254_reproductive_system_inflammat1.42942515
55* MP0002060_abnormal_skin_morphology1.42615030
56MP0002876_abnormal_thyroid_physiology1.42384345
57MP0005645_abnormal_hypothalamus_physiol1.41778164
58MP0003953_abnormal_hormone_level1.40722279
59MP0003172_abnormal_lysosome_physiology1.39803577
60MP0002933_joint_inflammation1.39516256
61MP0009643_abnormal_urine_homeostasis1.38314334
62* MP0003436_decreased_susceptibility_to1.34598528
63* MP0005390_skeleton_phenotype1.29356944
64MP0002108_abnormal_muscle_morphology1.27390572
65MP0003950_abnormal_plasma_membrane1.26914885
66MP0003959_abnormal_lean_body1.21591393
67MP0001756_abnormal_urination1.21446651
68MP0000685_abnormal_immune_system1.20447113
69MP0003828_pulmonary_edema1.20074107
70MP0001666_abnormal_nutrient_absorption1.19233550
71MP0003122_maternal_imprinting1.19190874
72MP0002234_abnormal_pharynx_morphology1.19075507
73MP0008961_abnormal_basal_metabolism1.14376261
74MP0005595_abnormal_vascular_smooth1.10910023
75MP0000343_altered_response_to1.09178909
76MP0006082_CNS_inflammation1.08909851
77MP0004858_abnormal_nervous_system1.08781359
78MP0005636_abnormal_mineral_homeostasis1.08343343
79MP0005058_abnormal_lysosome_morphology1.05263365
80MP0000462_abnormal_digestive_system1.03043666
81MP0003045_fibrosis1.01453721
82MP0001243_abnormal_dermal_layer1.01318489
83MP0009785_altered_susceptibility_to1.01057929
84MP0001879_abnormal_lymphatic_vessel1.00623181
85MP0002118_abnormal_lipid_homeostasis1.00433340
86* MP0004947_skin_inflammation0.99021711
87MP0001270_distended_abdomen0.98723897
88MP0000604_amyloidosis0.98292629
89MP0005375_adipose_tissue_phenotype0.97614137
90MP0000751_myopathy0.96585629
91MP0005387_immune_system_phenotype0.95062739
92MP0001790_abnormal_immune_system0.95062739
93MP0000249_abnormal_blood_vessel0.94519280
94MP0005388_respiratory_system_phenotype0.94389971
95MP0002133_abnormal_respiratory_system0.94389971
96MP0000681_abnormal_thyroid_gland0.94271856
97MP0005165_increased_susceptibility_to0.93859814
98MP0003075_altered_response_to0.93673571
99MP0004510_myositis0.92858860
100MP0004883_abnormal_blood_vessel0.91973845
101MP0005310_abnormal_salivary_gland0.88526841
102MP0000609_abnormal_liver_physiology0.88367825
103MP0008438_abnormal_cutaneous_collagen0.88099993
104MP0003448_altered_tumor_morphology0.87767941
105MP0003941_abnormal_skin_development0.87691489
106MP0001851_eye_inflammation0.86925569
107* MP0002419_abnormal_innate_immunity0.85851134
108MP0005448_abnormal_energy_balance0.85739162
109MP0001661_extended_life_span0.83820322
110MP0005076_abnormal_cell_differentiation0.83617553
111MP0000538_abnormal_urinary_bladder0.83299338
112MP0009764_decreased_sensitivity_to0.82622802
113* MP0002148_abnormal_hypersensitivity_rea0.81488949
114MP0005334_abnormal_fat_pad0.81423990
115MP0000230_abnormal_systemic_arterial0.81010405
116MP0002971_abnormal_brown_adipose0.79881192
117MP0003453_abnormal_keratinocyte_physiol0.78884693
118MP0009115_abnormal_fat_cell0.78295456
119MP0002163_abnormal_gland_morphology0.77669185
120MP0005408_hypopigmentation0.77662880
121MP0002168_other_aberrant_phenotype0.77169903
122MP0003795_abnormal_bone_structure0.76453503
123* MP0002405_respiratory_system_inflammati0.75651736
124MP0010329_abnormal_lipoprotein_level0.75289783
125MP0002115_abnormal_skeleton_extremities0.74978513
126MP0005084_abnormal_gallbladder_morpholo0.74720661
127MP0000639_abnormal_adrenal_gland0.73433128
128MP0000858_altered_metastatic_potential0.72859018
129* MP0005535_abnormal_body_temperature0.72857248
130MP0010155_abnormal_intestine_physiology0.72590090
131MP0008875_abnormal_xenobiotic_pharmacok0.71799768
132MP0003890_abnormal_embryonic-extraembry0.71463267
133* MP0009642_abnormal_blood_homeostasis0.70010904
134MP0001502_abnormal_circadian_rhythm0.69647338
135MP0002128_abnormal_blood_circulation0.68408330
136MP0000631_abnormal_neuroendocrine_gland0.68391406
137MP0003119_abnormal_digestive_system0.67858342
138MP0001614_abnormal_blood_vessel0.66517302
139MP0000163_abnormal_cartilage_morphology0.65494485
140MP0001175_abnormal_lung_morphology0.65346918
141MP0005166_decreased_susceptibility_to0.65039243
142* MP0005025_abnormal_response_to0.65026284
143MP0005167_abnormal_blood-brain_barrier0.65006974
144MP0002113_abnormal_skeleton_development0.64762678
145MP0005275_abnormal_skin_tensile0.64545593
146MP0002295_abnormal_pulmonary_circulatio0.64378482
147MP0005503_abnormal_tendon_morphology0.64364915
148MP0004782_abnormal_surfactant_physiolog0.64363126
149MP0005670_abnormal_white_adipose0.64137525
150MP0000465_gastrointestinal_hemorrhage0.62777887
151MP0009672_abnormal_birth_weight0.62271132
152MP0001835_abnormal_antigen_presentation0.61949140
153MP0005248_abnormal_Harderian_gland0.61734281
154* MP0005000_abnormal_immune_tolerance0.61215832
155MP0002177_abnormal_outer_ear0.61131824
156MP0001764_abnormal_homeostasis0.59795617
157MP0001299_abnormal_eye_distance/0.59097038
158MP0000579_abnormal_nail_morphology0.58796210
159MP0005332_abnormal_amino_acid0.58088113
160MP0006292_abnormal_olfactory_placode0.57028442
161MP0010368_abnormal_lymphatic_system0.54560605
162MP0003866_abnormal_defecation0.53994678
163MP0003806_abnormal_nucleotide_metabolis0.52397288
164MP0005508_abnormal_skeleton_morphology0.52381636
165MP0005452_abnormal_adipose_tissue0.51159280
166MP0002009_preneoplasia0.50680776
167MP0003724_increased_susceptibility_to0.50424678
168MP0002970_abnormal_white_adipose0.49642892
169MP0005319_abnormal_enzyme/_coenzyme0.47395912
170MP0005360_urolithiasis0.47123676
171MP0005083_abnormal_biliary_tract0.46861625

Predicted human phenotypes

RankGene SetZ-score
1Hyperinsulinemic hypoglycemia (HP:0000825)8.01558947
2Hypoglycemic seizures (HP:0002173)7.34743699
3Symptomatic seizures (HP:0011145)6.78422850
4Hypoglycemic coma (HP:0001325)6.74426554
5Protrusio acetabuli (HP:0003179)6.28322924
6Elevated circulating parathyroid hormone (PTH) level (HP:0003165)6.07513568
7Hyperglycemia (HP:0003074)5.91054375
8Premature rupture of membranes (HP:0001788)5.82883096
9Insulin-resistant diabetes mellitus (HP:0000831)5.28729540
10Aortic dissection (HP:0002647)5.05118444
11Aortic aneurysm (HP:0004942)4.86612586
12Pancreatic islet-cell hyperplasia (HP:0004510)4.75626431
13Abnormality of endocrine pancreas physiology (HP:0012093)4.64548169
14Abnormality of the pancreatic islet cells (HP:0006476)4.64548169
15Ketoacidosis (HP:0001993)4.41975251
16Abnormality of calcium-phosphate metabolism (HP:0100530)4.36301599
17Conjugated hyperbilirubinemia (HP:0002908)4.18498943
18Abnormality of the intrinsic pathway (HP:0010989)4.09469938
19Vascular tortuosity (HP:0004948)4.07974015
20Complement deficiency (HP:0004431)4.02164964
21Large for gestational age (HP:0001520)3.92443194
22Late onset (HP:0003584)3.85812669
23Abnormality of aromatic amino acid family metabolism (HP:0004338)3.81238623
24Systemic lupus erythematosus (HP:0002725)3.75976554
25Abnormality of complement system (HP:0005339)3.71096809
26Generalized aminoaciduria (HP:0002909)3.63780981
27Urinary glycosaminoglycan excretion (HP:0003541)3.63301999
28Mucopolysacchariduria (HP:0008155)3.63301999
29Follicular hyperkeratosis (HP:0007502)3.62421742
30Decreased circulating renin level (HP:0003351)3.56855303
31Soft skin (HP:0000977)3.55489125
32Peritonitis (HP:0002586)3.50805525
33Arterial tortuosity (HP:0005116)3.47242913
34Abnormal pancreas size (HP:0012094)3.42796605
35Osteomalacia (HP:0002749)3.34594078
36Persistence of primary teeth (HP:0006335)3.34240758
37Abnormality of polysaccharide metabolism (HP:0011012)3.33398025
38Abnormality of glycosaminoglycan metabolism (HP:0004371)3.33398025
39Abnormality of mucopolysaccharide metabolism (HP:0011020)3.33398025
40Ankle contracture (HP:0006466)3.23337363
41Spondylolisthesis (HP:0003302)3.20691726
42Dilatation of the ascending aorta (HP:0005111)3.19840673
43Insulin resistance (HP:0000855)3.19529316
44Abnormality of the common coagulation pathway (HP:0010990)3.18535633
45Bladder diverticulum (HP:0000015)3.07236343
46Dysostosis multiplex (HP:0000943)3.06456511
47Wormian bones (HP:0002645)3.06351690
48Hypokalemia (HP:0002900)3.05443999
49Vertebral compression fractures (HP:0002953)2.99318773
50Cerebral aneurysm (HP:0004944)2.98793899
51Blue sclerae (HP:0000592)2.95881211
52Retinal atrophy (HP:0001105)2.92152391
53Intrahepatic cholestasis (HP:0001406)2.90697759
54Broad metatarsal (HP:0001783)2.88842490
55Atrophic scars (HP:0001075)2.88161998
56Type 1 muscle fiber predominance (HP:0003803)2.84302310
57Agitation (HP:0000713)2.83811225
58Ketosis (HP:0001946)2.82311992
59Glomerulonephritis (HP:0000099)2.76738398
60Deep venous thrombosis (HP:0002625)2.76499722
61Ovoid vertebral bodies (HP:0003300)2.75701625
62Mitral valve prolapse (HP:0001634)2.75647754
63Asymmetric septal hypertrophy (HP:0001670)2.72748711
64Osteolytic defects of the phalanges of the hand (HP:0009771)2.72437255
65Osteolytic defects of the hand bones (HP:0009699)2.72437255
66Prominent metopic ridge (HP:0005487)2.70662965
67Fragile skin (HP:0001030)2.69872997
68Neonatal short-limb short stature (HP:0008921)2.69780055
69Hypoplasia of the fovea (HP:0007750)2.68669322
70Aplasia/Hypoplasia of the fovea (HP:0008060)2.68669322
71Aneurysm (HP:0002617)2.64936384
72Unilateral renal agenesis (HP:0000122)2.63670694
73Joint stiffness (HP:0001387)2.59927958
74Abnormality of potassium homeostasis (HP:0011042)2.54835992
75Abnormality of the fovea (HP:0000493)2.52129219
76Thoracolumbar scoliosis (HP:0002944)2.50027194
77Hyperparathyroidism (HP:0000843)2.49790964
78Skin nodule (HP:0200036)2.48058088
79Hyperkalemia (HP:0002153)2.47351309
80Striae distensae (HP:0001065)2.43972064
81Abnormality of the acetabulum (HP:0003170)2.38947390
82Spinal rigidity (HP:0003306)2.38309266
83Joint laxity (HP:0001388)2.38130002
84Flared iliac wings (HP:0002869)2.37042725
85Aortic regurgitation (HP:0001659)2.36292866
86Shallow orbits (HP:0000586)2.36188384
87Thin bony cortex (HP:0002753)2.35409970
88Hyperextensible skin (HP:0000974)2.33165099
89Nephritis (HP:0000123)2.31899143
90Overgrowth (HP:0001548)2.31835133
91Genu recurvatum (HP:0002816)2.31163132
92Interstitial pulmonary disease (HP:0006530)2.30330007
93Abnormality of the metopic suture (HP:0005556)2.30186849
94Abnormality of monocarboxylic acid metabolism (HP:0010996)2.29609389
95Slender build (HP:0001533)2.28381742
96Limb hypertonia (HP:0002509)2.24550396
97Abnormality of dentin (HP:0010299)2.23524202
98Abdominal distention (HP:0003270)2.21699859
99Abnormality of renin-angiotensin system (HP:0000847)2.21228902
100Cardiovascular calcification (HP:0011915)2.20353872
101Hypothermia (HP:0002045)2.20069515
102Abnormality of liposaccharide metabolism (HP:0010968)2.19714978
103Abnormality of glycosphingolipid metabolism (HP:0004343)2.19714978
104Abnormality of glycolipid metabolism (HP:0010969)2.19714978
105Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.18040753
106Abnormal protein N-linked glycosylation (HP:0012347)2.18040753
107Abnormal protein glycosylation (HP:0012346)2.18040753
108Abnormal glycosylation (HP:0012345)2.18040753
109Abnormal delivery (HP:0001787)2.15973872
110Dysautonomia (HP:0002459)2.15483770
111Prolonged partial thromboplastin time (HP:0003645)2.14159407
112Hypophosphatemia (HP:0002148)2.13978350
113Protuberant abdomen (HP:0001538)2.13835680
114Glucose intolerance (HP:0000833)2.12061177
115Hypsarrhythmia (HP:0002521)2.11760930
116EEG with generalized epileptiform discharges (HP:0011198)2.11738939
117Increased variability in muscle fiber diameter (HP:0003557)2.08602791
118Premature loss of primary teeth (HP:0006323)2.08210610
119Myocardial infarction (HP:0001658)2.08135598
120Hyperphosphatemia (HP:0002905)2.06396759
121Increased connective tissue (HP:0009025)2.04601164
122Mildly elevated creatine phosphokinase (HP:0008180)2.03476145
123Biconcave vertebral bodies (HP:0004586)2.03040509
124Abnormal biliary tract morphology (HP:0012440)2.02186536
125Aortic valve stenosis (HP:0001650)2.00791283
126Exocrine pancreatic insufficiency (HP:0001738)2.00588773
127Congenital glaucoma (HP:0001087)2.00574016
128Hyperactive renin-angiotensin system (HP:0000841)1.99858389
129Epileptiform EEG discharges (HP:0011182)1.99336267
130Macroorchidism (HP:0000053)1.92064093
131Elevated alkaline phosphatase (HP:0003155)1.90156632
132Abnormality of skull ossification (HP:0002703)1.89864643
133Osteoarthritis (HP:0002758)1.89821502
134Delayed closure of the anterior fontanelle (HP:0001476)1.87823209
135Coxa vara (HP:0002812)1.84850467
136Wide anterior fontanel (HP:0000260)1.84442007
137Cystic liver disease (HP:0006706)1.82872013
138Mitral regurgitation (HP:0001653)1.82248852
139Periodontitis (HP:0000704)1.80799688
140Vacuolated lymphocytes (HP:0001922)1.80430454
141Emphysema (HP:0002097)1.80241663
142Abnormality of purine metabolism (HP:0004352)1.79038805
143Cortical visual impairment (HP:0100704)1.78548116
144Cervical subluxation (HP:0003308)1.78049672
145Acne (HP:0001061)1.77527349
146Pulmonary artery stenosis (HP:0004415)1.76626745
147Abnormality of alkaline phosphatase activity (HP:0004379)1.75764023
148Orchitis (HP:0100796)1.74967258
149Camptodactyly of toe (HP:0001836)1.74774612
150Abnormal glucose tolerance (HP:0001952)1.74664043
151Disproportionate short-trunk short stature (HP:0003521)1.74374428
152Natal tooth (HP:0000695)1.74074985
153Abnormality of carpal bone ossification (HP:0006257)1.74015599
154Intestinal atresia (HP:0011100)1.73886309
155Absent frontal sinuses (HP:0002688)1.72971753
156Femoral bowing (HP:0002980)1.72377756
157Abnormality of the peritoneum (HP:0002585)1.72326231
158Chronic bronchitis (HP:0004469)1.72271440
159Abnormality of skeletal muscle fiber size (HP:0012084)1.72059964
160Abnormality of primary teeth (HP:0006481)1.71943394
161Aplasia/Hypoplasia of the macula (HP:0008059)1.71528569
162Ectopia lentis (HP:0001083)1.70695596
163Type I transferrin isoform profile (HP:0003642)1.70691741
164Fat malabsorption (HP:0002630)1.69411999
165Long toe (HP:0010511)1.69124968
166Abnormal enzyme/coenzyme activity (HP:0012379)1.68897164
167Gastrointestinal infarctions (HP:0005244)1.68223834
168Inguinal hernia (HP:0000023)1.68179907
169Progressive neurologic deterioration (HP:0002344)1.68050299
170Papilledema (HP:0001085)1.67443690
171Elbow flexion contracture (HP:0002987)1.66532754
172Restlessness (HP:0000711)1.65502152
173Enlarged kidneys (HP:0000105)1.65431942
174Thin skin (HP:0000963)1.65261944
175Irregular vertebral endplates (HP:0003301)1.65151371
176Loss of speech (HP:0002371)1.64823899
177Death in childhood (HP:0003819)1.64661640
178Abnormality of chloride homeostasis (HP:0011422)1.64006072
179Hyperbilirubinemia (HP:0002904)1.63998015
180Hypercortisolism (HP:0001578)1.62179350
181Gout (HP:0001997)1.61327966
182Aplasia/Hypoplasia affecting the retina (HP:0008061)1.61318361
183Severe short stature (HP:0003510)1.61038766
184Hypoplasia of the thymus (HP:0000778)1.60656768
185Oligomenorrhea (HP:0000876)1.58911752
186Renal cortical cysts (HP:0000803)1.56957529
187Mitral stenosis (HP:0001718)1.55280613
188Congenital sensorineural hearing impairment (HP:0008527)1.54128256

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR6.80138429
2TAOK34.51586485
3PASK4.33833963
4PRKD33.65917786
5MAPK153.58494891
6DDR23.24849498
7FRK3.16655128
8HIPK22.90294637
9TGFBR22.88300337
10IRAK32.76507928
11MYLK2.73562360
12ERN12.51207782
13MAP3K22.46512565
14EPHA32.25202781
15FLT32.22125642
16WNK32.03549830
17LATS21.79897806
18KIT1.71008091
19WNK41.66631783
20CAMKK21.64669083
21TYK21.63689239
22AKT31.53958470
23MAP3K11.53877331
24PDGFRA1.51695272
25PRPF4B1.45963463
26IRAK11.44458469
27SCYL21.44396782
28TTN1.38605496
29MAP3K131.36763151
30GRK71.30062289
31BRSK21.29700592
32TBK11.27599918
33PTK61.26908021
34MAP3K61.23736068
35PIK3CG1.22793382
36BMPR21.22770808
37* CDC42BPA1.21433800
38PRKCH1.19260934
39MAPK71.15673969
40PRKD21.14880430
41PAK21.13518130
42NLK1.09087600
43NTRK31.08074348
44TRPM71.07470890
45UHMK11.07238021
46FGFR41.05068690
47PTK21.01998021
48ERBB31.01721595
49SIK11.01640503
50STK381.00624943
51BCKDK0.98566043
52MAP3K70.98546395
53NTRK10.97491745
54ABL20.96008587
55TRIB30.95158992
56BRD40.94743274
57TAOK20.93736238
58MOS0.93500126
59JAK10.91481022
60MATK0.91017345
61IKBKE0.89972137
62LATS10.89545036
63FER0.88519960
64FGFR30.86147211
65IRAK20.85587543
66BMPR1B0.85000949
67PAK30.84217289
68MAP2K30.77976986
69MET0.77005153
70JAK20.76119481
71RET0.75586819
72JAK30.73196389
73DYRK1B0.73050356
74PDPK10.72534072
75BLK0.72492145
76MAP3K30.72490452
77IRAK40.71692547
78PRKAA10.71214994
79ADRBK10.70299528
80EIF2AK30.70222178
81CSK0.68277684
82EPHB20.68052797
83GRK60.67172372
84STK38L0.66638952
85PRKCE0.66317433
86DMPK0.64498937
87WNK10.62980579
88ADRBK20.62467969
89IKBKB0.60429749
90RPS6KB10.59661627
91NUAK10.59451774
92MARK20.58597610
93MAP2K10.58472791
94STK30.58356158
95ICK0.56865689
96GSK3A0.55038808
97CLK10.53290513
98MAP2K20.52974254
99TESK10.52890448
100SGK20.51269824
101CHUK0.51048774
102ERBB40.51019301
103PKN20.50373904
104TEC0.49883143
105EPHB10.49098976
106ITK0.48848339
107GRK50.48630624
108MTOR0.47882906
109CDK120.47544075
110MST1R0.47466528
111NEK60.47266443
112PRKAA20.46635127
113PDK20.46622181
114CAMK2D0.45913620
115MAPKAPK30.45869739
116PIM20.45853889
117PRKD10.45826286
118EPHA20.45601456
119PAK40.44800657
120IGF1R0.44743852
121RPS6KA20.43132320
122RIPK10.42963401
123ZAP700.42628718
124ZAK0.42603795
125GRK10.41710668
126PDGFRB0.40727056
127MAPK120.40464375
128PRKACG0.38047560
129RPS6KA40.36944904
130MAP3K140.33391951
131CSNK1A10.32382856
132SGK30.32218483
133PRKCI0.30199320
134MELK0.28964230
135CAMKK10.27231445
136NEK90.27229421
137PIK3CA0.25092866
138AKT10.25037877
139SGK2230.23950345
140SGK4940.23950345
141BRAF0.23419059
142PRKDC0.21927168
143PRKG20.21809817
144MAPK140.21614708
145BRSK10.20044203
146PRKACA0.19438676
147MAPK30.19183441
148CDK90.18627631
149SGK10.18303434
150TIE10.18027717

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049509.28869516
2Protein export_Homo sapiens_hsa030605.70889853
3Sulfur metabolism_Homo sapiens_hsa009203.73556544
4Protein processing in endoplasmic reticulum_Homo sapiens_hsa041413.33939553
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.91196941
6Insulin secretion_Homo sapiens_hsa049112.90809319
7ECM-receptor interaction_Homo sapiens_hsa045122.26663012
8Staphylococcus aureus infection_Homo sapiens_hsa051502.23455019
9Selenocompound metabolism_Homo sapiens_hsa004502.21167946
10Type II diabetes mellitus_Homo sapiens_hsa049302.10332658
11Type I diabetes mellitus_Homo sapiens_hsa049401.93167053
12Pertussis_Homo sapiens_hsa051331.91771198
13Malaria_Homo sapiens_hsa051441.90815727
14N-Glycan biosynthesis_Homo sapiens_hsa005101.67712844
15Carbohydrate digestion and absorption_Homo sapiens_hsa049731.61421284
16* Amoebiasis_Homo sapiens_hsa051461.57873402
17Glycosaminoglycan degradation_Homo sapiens_hsa005311.57546806
18Focal adhesion_Homo sapiens_hsa045101.53503651
19AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.49432551
20Vibrio cholerae infection_Homo sapiens_hsa051101.46406665
21ABC transporters_Homo sapiens_hsa020101.44151240
22Circadian rhythm_Homo sapiens_hsa047101.38849440
23Tryptophan metabolism_Homo sapiens_hsa003801.35416938
24Cocaine addiction_Homo sapiens_hsa050301.30401654
25Lysosome_Homo sapiens_hsa041421.29884703
26* NF-kappa B signaling pathway_Homo sapiens_hsa040641.26414431
27* Osteoclast differentiation_Homo sapiens_hsa043801.23162526
28Insulin resistance_Homo sapiens_hsa049311.22860496
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.21895268
30* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.18067437
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.17006116
32SNARE interactions in vesicular transport_Homo sapiens_hsa041301.16689489
33Leishmaniasis_Homo sapiens_hsa051401.15697406
34Folate biosynthesis_Homo sapiens_hsa007901.15000946
35Toxoplasmosis_Homo sapiens_hsa051451.14057319
36Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.10785713
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.10523416
38Glucagon signaling pathway_Homo sapiens_hsa049221.10346095
39Starch and sucrose metabolism_Homo sapiens_hsa005001.08710154
40Toll-like receptor signaling pathway_Homo sapiens_hsa046201.07800384
41Galactose metabolism_Homo sapiens_hsa000521.07228195
42Fatty acid biosynthesis_Homo sapiens_hsa000611.03796500
43Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.03051568
44Thyroid hormone synthesis_Homo sapiens_hsa049181.02292660
45Proteoglycans in cancer_Homo sapiens_hsa052051.02113015
46Rheumatoid arthritis_Homo sapiens_hsa053231.00969173
47Renin-angiotensin system_Homo sapiens_hsa046141.00330545
48Nitrogen metabolism_Homo sapiens_hsa009100.99298074
49Jak-STAT signaling pathway_Homo sapiens_hsa046300.99277189
50Other glycan degradation_Homo sapiens_hsa005110.95091256
51African trypanosomiasis_Homo sapiens_hsa051430.93519651
52Mineral absorption_Homo sapiens_hsa049780.91208467
53Hepatitis C_Homo sapiens_hsa051600.91132994
54RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.89080367
55Small cell lung cancer_Homo sapiens_hsa052220.88075012
56Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.85006728
57Prolactin signaling pathway_Homo sapiens_hsa049170.84196509
58NOD-like receptor signaling pathway_Homo sapiens_hsa046210.83910659
59Caffeine metabolism_Homo sapiens_hsa002320.83448439
60Prion diseases_Homo sapiens_hsa050200.82391310
61Regulation of autophagy_Homo sapiens_hsa041400.81649940
62Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79202250
63Amphetamine addiction_Homo sapiens_hsa050310.77606116
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.76679662
65Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.76530777
66Histidine metabolism_Homo sapiens_hsa003400.74803838
67Primary bile acid biosynthesis_Homo sapiens_hsa001200.74673197
68Tuberculosis_Homo sapiens_hsa051520.74619511
69Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.72746011
70Phenylalanine metabolism_Homo sapiens_hsa003600.72504886
71Pancreatic secretion_Homo sapiens_hsa049720.72144316
72Influenza A_Homo sapiens_hsa051640.71472181
73Adherens junction_Homo sapiens_hsa045200.71413152
74PI3K-Akt signaling pathway_Homo sapiens_hsa041510.70626501
75Leukocyte transendothelial migration_Homo sapiens_hsa046700.69108904
76Linoleic acid metabolism_Homo sapiens_hsa005910.68326648
77Dilated cardiomyopathy_Homo sapiens_hsa054140.67034052
78Fat digestion and absorption_Homo sapiens_hsa049750.66204219
79Cyanoamino acid metabolism_Homo sapiens_hsa004600.66150333
80Aldosterone synthesis and secretion_Homo sapiens_hsa049250.65818874
81* Hematopoietic cell lineage_Homo sapiens_hsa046400.62852632
82Taste transduction_Homo sapiens_hsa047420.62531701
83Butanoate metabolism_Homo sapiens_hsa006500.62314946
84Chemical carcinogenesis_Homo sapiens_hsa052040.61587540
85alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.61559201
86Retinol metabolism_Homo sapiens_hsa008300.61341710
87Acute myeloid leukemia_Homo sapiens_hsa052210.60734733
88Lysine degradation_Homo sapiens_hsa003100.60405829
89Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.58963325
90Fatty acid degradation_Homo sapiens_hsa000710.57308412
91Arachidonic acid metabolism_Homo sapiens_hsa005900.55814720
92Tyrosine metabolism_Homo sapiens_hsa003500.54425295
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.54099956
94Peroxisome_Homo sapiens_hsa041460.53846070
95Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.53341612
96Platelet activation_Homo sapiens_hsa046110.52947856
97Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.52507343
98Complement and coagulation cascades_Homo sapiens_hsa046100.52347246
99Measles_Homo sapiens_hsa051620.52330661
100Sphingolipid metabolism_Homo sapiens_hsa006000.50252220
101Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50077118
102TGF-beta signaling pathway_Homo sapiens_hsa043500.49256018
103Phospholipase D signaling pathway_Homo sapiens_hsa040720.49099198
104Salmonella infection_Homo sapiens_hsa051320.48864230
105Intestinal immune network for IgA production_Homo sapiens_hsa046720.48611729
106Insulin signaling pathway_Homo sapiens_hsa049100.48498845
107Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.48270754
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.47705552
109Prostate cancer_Homo sapiens_hsa052150.47276461
110Protein digestion and absorption_Homo sapiens_hsa049740.46963072
111Graft-versus-host disease_Homo sapiens_hsa053320.45269183
112Chronic myeloid leukemia_Homo sapiens_hsa052200.44919670
113Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44629610
114Pentose and glucuronate interconversions_Homo sapiens_hsa000400.43958402
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.43066069
116Estrogen signaling pathway_Homo sapiens_hsa049150.41995866
117Chemokine signaling pathway_Homo sapiens_hsa040620.41964663
118Pathways in cancer_Homo sapiens_hsa052000.41870157
119Hepatitis B_Homo sapiens_hsa051610.41853850
120Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41853075
121Drug metabolism - other enzymes_Homo sapiens_hsa009830.41785156
122Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.39877973
123Vascular smooth muscle contraction_Homo sapiens_hsa042700.39818534
124Cholinergic synapse_Homo sapiens_hsa047250.38430677
125Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37169087
126AMPK signaling pathway_Homo sapiens_hsa041520.34660981
127cGMP-PKG signaling pathway_Homo sapiens_hsa040220.33792937
128Dopaminergic synapse_Homo sapiens_hsa047280.33256340
129Antigen processing and presentation_Homo sapiens_hsa046120.32826443
130Adipocytokine signaling pathway_Homo sapiens_hsa049200.32040517
131mTOR signaling pathway_Homo sapiens_hsa041500.31834245
132Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.30101733
133Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29987303
134Legionellosis_Homo sapiens_hsa051340.29824109
135Ovarian steroidogenesis_Homo sapiens_hsa049130.29725902
136Thyroid cancer_Homo sapiens_hsa052160.28791311
137Serotonergic synapse_Homo sapiens_hsa047260.27224474
138Dorso-ventral axis formation_Homo sapiens_hsa043200.26638637
139Bile secretion_Homo sapiens_hsa049760.25157504
140Inositol phosphate metabolism_Homo sapiens_hsa005620.22469474
141Bladder cancer_Homo sapiens_hsa052190.22299224
142FoxO signaling pathway_Homo sapiens_hsa040680.21631903
143Phosphatidylinositol signaling system_Homo sapiens_hsa040700.19831682
144Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.18823452
145GABAergic synapse_Homo sapiens_hsa047270.17584462
146Long-term potentiation_Homo sapiens_hsa047200.16497617
147Renin secretion_Homo sapiens_hsa049240.16017346
148Circadian entrainment_Homo sapiens_hsa047130.16002698
149Thyroid hormone signaling pathway_Homo sapiens_hsa049190.15852784
150Fatty acid metabolism_Homo sapiens_hsa012120.14220475
151cAMP signaling pathway_Homo sapiens_hsa040240.13745485
152TNF signaling pathway_Homo sapiens_hsa046680.13427571
153Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.13199956
154Phagosome_Homo sapiens_hsa041450.12001433
155Steroid hormone biosynthesis_Homo sapiens_hsa001400.11880856
156Fructose and mannose metabolism_Homo sapiens_hsa000510.10510755
157PPAR signaling pathway_Homo sapiens_hsa033200.09725897

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »